APPBP2: Amyloid Beta Precursor Protein Binding Protein 2
A gene encoding a protein involved in intracellular trafficking and amyloid precursor protein processing, with implications in Alzheimer's disease and cancer.
Gene Information Card
| Symbol | APPBP2 |
|---|---|
| Full Name | Amyloid Beta Precursor Protein Binding Protein 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q21.32 |
| NCBI Gene ID | 10513 ncbi.nlm.nih.gov/gene/10513 |
| Ensembl ID | ENSG00000108379 |
| UniProt ID | Q92624 |
| OMIM ID | 605324 |
| HGNC ID | 598 |
| Aliases | PAT1, HsT17279, KIAA0228 |
Description
APPBP2 (amyloid beta precursor protein binding protein 2) encodes a protein that interacts with the cytoplasmic domain of the amyloid beta precursor protein (APP). The encoded protein is involved in intracellular trafficking, particularly in the retrograde transport of APP from endosomes to the trans-Golgi network. It also functions as a microtubule-associated protein and may play a role in cell cycle regulation. Alternative splicing results in multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer's disease | APPBP2 binds APP and may influence APP processing and amyloid-beta production; altered expression linked to disease pathology. | PMID: 10391915 |
| Breast cancer | Overexpression of APPBP2 (PAT1) is associated with poor prognosis; may promote cell proliferation and migration. | PMID: 19177216 |
| Colorectal cancer | APPBP2 upregulation correlates with tumor progression and metastasis. | PMID: 25605247 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Breast | 8.5 | Low |
| Colon | 12.1 | Medium |
| Lung | 10.3 | Medium |
| Liver | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.5 | Cervical cancer cell line |
| MCF7 | 11.2 | Breast cancer cell line |
| HCT116 | 13.8 | Colorectal cancer cell line |
| HEK293 | 9.4 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <0.01% | Unknown; rare variant in population databases |
| c.567G>A (p.Val189Ile) | Missense | <0.01% | Unknown; likely benign |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
Overexpression in cancer suggests potential gain-of-function role, but no specific activating mutations identified.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • microtubule binding |
| • intracellular protein transport | • retrograde transport |
| • endosome to Golgi | • regulation of cell cycle |
Pathways
• APP processing
• Endosomal transport
• Microtubule-dependent transport
Protein Summary
APPBP2 is a 660-amino acid protein that contains a coiled-coil domain and localizes to the cytoplasm and microtubules. It binds to the cytoplasmic tail of APP and facilitates its retrograde transport. The protein is also implicated in cell cycle progression and tumorigenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| APPBP2 Knockout HEK293 Cell Line | EDJ-KQ7073 | Human | 10513 | Details Get a Quote |
| APPBP2 Knockout A-549 Cell Line | EDJ-KQ31898 | Human | 10513 | Details Get a Quote |
| APPBP2 Knockout HCT 116 Cell Line | EDJ-KQ31899 | Human | 10513 | Details Get a Quote |
| APPBP2 Knockout HeLa Cell Line | EDJ-KQ31900 | Human | 10513 | Details Get a Quote |
